Conditions / Musculoskeletal

brachydactyly type E2

info · Musculoskeletal

A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.

Signs and symptoms

  • Short stature
  • Brachydactyly
  • Short metacarpal
  • Short metatarsal
  • Delayed eruption of teeth
  • Oligodontia

Also known as: BDE2